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Header Exoma

Exome

The human genome contains more than 20,000 genes, of which around 6,000 are known be involved in various diseases.
Each gene is composed of exons and introns. Exons are coding regions, giving rise to proteins, while introns are non-coding regions.
The exome is a set of exons that includes all the exonic regions of the genome.
Exome sequencing is a technique used to search for mutations in all genes, based on next-generation sequencing (NGS) technology.
ICM offers various different diagnostic approaches depending on the specific needs of a case:

  • Clinical exome sequencing: entails the sequencing of more than 5,000 genes associated with various disorders. 
  • Whole exome sequencing: includes the sequencing of 20,000 genes. 
  • Trio-based exome sequencing: in this case, more than 20,000 genes included in the genome are sequenced. It is used in cases where the aetiology of the phenotype is unknown. In such a case, when analysing such a large number of genes and obtaining the analysis of hundreds of genetic variants of unknown significance, it is essential to compare the data obtained from the patient with their parents. This information can then be used to filter those variants that are found in the patient and in at least one of their parents, and to identify them as benign if the parents are healthy individuals.


ICM utilises sequencing technology with the best coverage and depth on the market. The coverage offered exceeds 90% and the average depth is 100X for exomes of >20,000 genes.

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Centro de Diagnóstico autorizado por la Xunta de Galicia, inscrito en el Registro de Centros Sanitarios con el Nº C-27-001187
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